Results 41 to 50 of about 9,987 (182)

Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome

EMBO Molecular Medicine, 2019
Optic nerve atrophy represents the most common form of hereditary optic neuropathies leading to vision impairment. The recently described Bosch‐Boonstra‐Schaaf optic atrophy (BBSOA) syndrome denotes an autosomal dominant genetic form of neuropathy caused
Michele Bertacchi, Agnès Gruart, Polynikis Kaimakis, Cécile Allet, Linda Serra, Paolo Giacobini, José M Delgado‐García, Paola Bovolenta, Michèle Studer   +8 more
doaj   +1 more source

Medical management of hereditary optic neuropathies

Frontiers in Neurology, 2014
Hereditary optic neuropathies are diseases of the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e. the maternally inherited Leber’s Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA).
Chiara eLa Morgia, Chiara eLa Morgia, Michele eCarbonelli, Piero eBarboni, Piero eBarboni, Alfredo Arrigo Sadun, Valerio eCarelli, Valerio eCarelli   +7 more
doaj   +1 more source

Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations [PDF]

, 2017
Many genes implicated in familial Parkinson disease (PD) code for proteins with mitochondrial function.1 Several of these genes, including PINK1 and PARK2, are involved in mitophagy, a mitochondrial quality control pathway.2 We describe a family with 3 ...
Houlden, H, Lynch, DS, L. Miguel Martins, J Harley (7734446), Jasmine Harley, Harley, J, Martins, LM, LM Martins (7674107), Loh, SHY, Plun-Favreau, H, Helene Plun-Favreau, AJ Noyce (7734449), H Plun-Favreau (7674083), Samantha H.Y. Loh, David S. Lynch, Henry Houlden, NW Wood (7674113), Wood, NW, Alastair J. Noyce, Noyce, AJ, DS Lynch (7734443), SH Loh (7674095), Nicholas W. Wood, H Houlden (7734452)   +23 more
core   +2 more sources

Sustained intracellular calcium rise mediates neuronal mitophagy in models of autosomal dominant optic atrophy [PDF]

, 2021
Mitochondrial dysfunction and mitophagy are often hallmarks of neurodegenerative diseases such as autosomal dominant optic atrophy (ADOA) caused by mutations in the key mitochondrial dynamics protein optic atrophy 1 (Opa1). However, the second messengers
Scorrano L., Palikaras K., Zaninello M., Tavernarakis N., Sotiriou A.   +4 more
core   +1 more source

OPA1 increases the risk of normal but not high tension glaucoma

, 2010
Background Primary open angle glaucoma is a progressive optic neuropathy characterised by the selective loss of retinal ganglion cells, pathological optic disc cupping and visual field defects.
Griffiths, P. G., Birch, M. K., Andrews, R. M., Chinnery, P. F., Hudson, G., Yu-Wai-Man, P., Stewart, J .D.   +6 more
core   +1 more source

The natural history of OPA1-related autosomal dominant optic atrophy [PDF]

British Journal of Ophthalmology, 2008
Autosomal dominant optic atrophy (ADOA) is a genetically heterogenous disease. However, a large proportion of this disease is accounted for by mutations in OPA1. The aim of this longitudinal study was to investigate disease progression in Australian ADOA patients with confirmed OPA1 mutations.Probands with characteristic clinical findings of ADOA were ...
A C, Cohn, C, Toomes, A W, Hewitt, L S, Kearns, C F, Inglehearn, J E, Craig, D A, Mackey   +6 more
openaire   +2 more sources

Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy. [PDF]

Brain Commun
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (ADOA) are the two most prevailing primary mitochondrial optic neuropathies. Both diseases preferentially affect the smallest retinal ganglion cells (GCs) of the papillomacular
Rufa A, Plantone D, Bargagli A, Righi D, Bacci T, Serchi V, Primiano G, Gallus GN, Lopergolo D, Pretegiani E, Rosini F, Locci S, Tosi GM, De Stefano N.   +13 more
europepmc   +2 more sources

Wolfram syndrome: A case report

Chronic Diseases Journal, 2014
Wolfram syndrome (WFS) is a rare disease inherited as an autosomal dominant trait. Type I diabetes mellitus and optic atrophy are the main symptoms of the disease.
Alireza Eskandarifar, Banafsheh Sedaghat, Somayeh Janany, Mozhgan Hosseiny, Alireza Gharib   +4 more
doaj   +1 more source

The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. [PDF]

PLoS Genetics, 2008
Mutations in optic atrophy 1 (OPA1), a nuclear gene encoding a mitochondrial protein, is the most common cause for autosomal dominant optic atrophy (DOA).
Will Yarosh, Jessica Monserrate, James Jiayuan Tong, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Carrie B Brachmann, Douglas C Wallace, Taosheng Huang   +8 more
doaj   +1 more source

Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1996
The association between hereditary motor and sensory neuropathy (HMSN) and optic atrophy has been termed HMSN type VI. The autosomal dominant inheritance of this syndrome is reported. Three generations were affected with optic atrophy, which differed in some respects from classic dominant optic atrophy, and an asymptomatic, mainly sensory, neuropathy.
R M, Chalmers, A C, Bird, A E, Harding
openaire   +2 more sources